Genetics

Latest AI and machine learning research in genetics for healthcare professionals.

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EpiPred: A gene-specific machine learning model for classifying missense variants in the epilepsy-related gene STXBP1

Missense variants in the STXBP1 gene are a frequent cause of early-onset developmental and epileptic...

DynaRepo: The repository of macromolecular conformational dynamics

Proteins, RNA, and DNA are central to virtually all cellular processes, often assembling into macro-...

Identifying pyrogenic contaminants using transcriptomic profiling of monocyte activation test with machine learning

The monocyte activation test is an in vitro pyrogenicity assessment method that can utilise human pe...

Limitations of de novo sequencing in resolving sequence ambiguity

De novo peptide sequencing enables peptide identification from fragmentation spectra without relying...

Understanding Language Model Scaling on Protein Fitness Prediction

Protein language models, and models that incorporate structure or homologous sequences, estimate seq...

TCUP – An Open Access Tool to Predict Tissue of Origin and Cancer of Unknown Primary (CUP)

Cancer of unknown primary (CUP) remains a major diagnostic hurdle, compromising therapies that depen...

Characterization of metabolic phenotypes in breast cancer through the integration of genome-scale metabolic models and machine learning

The metabolic heterogeneity of breast cancer represents a significant challenge for the identificati...

RNA-seq derived sequence variations are excellent features for cell line identification

Cell lines are indispensable models for analyzing molecular mechanisms underlying human diseases. Ho...

Variant effect prediction with reliability estimation across priority viruses

Viruses pose a significant threat to global health due to their rapid evolution, adaptability, and i...

TissueFormer: a neural network for labeling tissue from grouped single-cell RNA profiles

Single-cell RNA sequencing technologies have enabled unprecedented insights into gene expression and...

Mapping antigenic evolution of influenza A virus using deep learning-based prediction of hemagglutination inhibition titers

Seasonal influenza remains a significant public health challenge through unpredictable antigenic dri...

“Frustratingly easy” domain adaptation for cross-species transcription factor binding prediction

Understanding how DNA sequence encodes gene regulation remains a central challenge in genomics. Whil...

Out-of-the-box bioinformatics capabilities of large language models (LLMs)

Large Language Models (LLMs), AI agents and co-scientists promise to accelerate scientific discovery...

Tripleknock: predicting lethal effect of three-gene knockout in bacteria by deep learning

Investigating the lethal effect of multi-gene knockout is essential for discovering novel antibiotic...

Uncovering Cas9 PAM diversity through metagenomic mining and machine learning

Recognition of protospacer adjacent motifs (PAMs) is crucial for target site recognition by CRISPR–C...

A Diffusion-Based Autoencoder for Learning Patient-Level Representations from Single-Cell Data

Single-cell RNA sequencing (scRNA-seq) offers insights into cellular heterogeneity and tissue compos...

Neural Network-Enhanced Investigation of Ferroptosis and Druggability in Early-Onset Alzheimer’s Disease

Alzheimer’s disease (AD) is a complex neurodegenerative disorder which is multifactorial in nature. ...

Improving RNA Secondary Structure Prediction Through Expanded Training Data

In recent years, deep learning has revolutionized protein structure prediction, achieving remarkable...

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